The genetic contribution to systemic lupus erythematosus.
We are currently witnessing an explosion of information about the genetic contribution to complex human diseases such as systemic lupus erythematosus (SLE). These genetic discoveries have profound implications for efforts to more fully characterize etiologic pathways and mechanisms. Further, these etiologic insights should lead to improved diagnostic and prognostic tools and inform the development of more specific therapies for SLE and related conditions. The article summarizes the evidence supporting a role for genetic factors in SLE, highlights the clinical and genetic complexity of the disease, reviews the genes that have established contributions to the risk of SLE and specific disease manifestations, and discusses the recent data emerging from genomewide association studies of SLE.
Criswell
Lindsey A
LA
Department of Medicine, University of California, San Francisco, CA, USA. lindsey.criswell@ucsf.edu
D015703:Antigens, CD / Q000235:genetics; D051017:Apoptosis Regulatory Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008957:Models, Genetic; D011110:Polymorphism, Genetic; D061026:Programmed Cell Death 1 Receptor; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics; D017452:Receptors, IgG / Q000235:genetics; D012307:Risk Factors; D050797:STAT4 Transcription Factor / Q000235:genetics
D015703:Antigens, CD; D051017:Apoptosis Regulatory Proteins; C445323:FCGR2A protein, human; C496124:FCGR3A protein, human; D006680:HLA Antigens; C431713:IRF5 protein, human; D050835:Interferon Regulatory Factors; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor; D017452:Receptors, IgG; D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22